Canonical Allele Identifier: CA2356806588
Gene: ABHD12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.25308234_25308235delinsCT , CM000682.2:g.25308234_25308235delinsCT GRCh38
NC_000020.10:g.25288870_25288871delinsCT , CM000682.1:g.25288870_25288871delinsCT GRCh37
NC_000020.9:g.25236870_25236871delinsCT NCBI36
NG_028119.1:g.87748_87749delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000339157.10:c.788-190_788-189delinsAG MANE Select ENSP00000341408.5:n.788-190_788-189delinsAG
ENST00000376542.8:c.788-190_788-189delinsAG ENSP00000365725.3:n.788-190_788-189delinsAG
ENST00000465694.2:c.242-190_242-189delinsAG ENSP00000459278.2:n.242-190_242-189delinsAG
ENST00000671784.1:c.242-190_242-189delinsAG ENSP00000500451.1:n.242-190_242-189delinsAG
ENST00000671858.1:c.242-190_242-189delinsAG ENSP00000500550.1:n.242-190_242-189delinsAG
ENST00000672001.1:n.299-190_299-189delinsAG
ENST00000672114.1:c.242-190_242-189delinsAG ENSP00000499945.1:n.242-190_242-189delinsAG
ENST00000672258.1:c.242-190_242-189delinsAG ENSP00000499868.1:n.242-190_242-189delinsAG
ENST00000672331.1:c.242-190_242-189delinsAG ENSP00000500286.1:n.242-190_242-189delinsAG
ENST00000672358.1:c.242-190_242-189delinsAG ENSP00000500062.1:n.242-190_242-189delinsAG
ENST00000672406.1:c.*127-190_*127-189delinsAG ENSP00000500208.1:n.*127-190_*127-189delinsAG
ENST00000672566.1:c.317-190_317-189delinsAG ENSP00000500106.1:n.317-190_317-189delinsAG
ENST00000672596.1:c.242-190_242-189delinsAG ENSP00000500290.1:n.242-190_242-189delinsAG
ENST00000672871.1:c.242-190_242-189delinsAG ENSP00000499949.1:n.242-190_242-189delinsAG
ENST00000673094.1:c.242-190_242-189delinsAG ENSP00000500257.1:n.242-190_242-189delinsAG
ENST00000673121.1:c.344-190_344-189delinsAG ENSP00000499839.1:n.344-190_344-189delinsAG
ENST00000673227.1:c.242-190_242-189delinsAG ENSP00000500514.1:n.242-190_242-189delinsAG
ENST00000673524.1:c.350-190_350-189delinsAG
ENST00000339157.9:c.788-190_788-189delinsAG ENSP00000341408.5:n.788-190_788-189delinsAG
ENST00000376542.7:c.788-190_788-189delinsAG ENSP00000365725.3:n.788-190_788-189delinsAG
ENST00000481556.1:n.442-190_442-189delinsAG
ENST00000491682.5:c.317-190_317-189delinsAG ENSP00000459495.1:n.317-190_317-189delinsAG
ENST00000576316.5:c.92-190_92-189delinsAG ENSP00000459121.1:n.92-190_92-189delinsAG
NM_001042472.2:c.788-190_788-189delinsAG NP_001035937.1:n.788-190_788-189delinsAG
NM_015600.4:c.788-190_788-189delinsAG NP_056415.1:n.788-190_788-189delinsAG
XM_005260698.1:c.788-190_788-189delinsAG XP_005260755.1:n.788-190_788-189delinsAG
XM_005260699.3:c.788-190_788-189delinsAG XP_005260756.1:n.788-190_788-189delinsAG
XM_005260700.1:c.317-190_317-189delinsAG XP_005260757.1:n.317-190_317-189delinsAG
XM_011529214.1:c.788-190_788-189delinsAG XP_011527516.1:n.788-190_788-189delinsAG
XM_011529215.1:c.317-190_317-189delinsAG XP_011527517.1:n.317-190_317-189delinsAG
XM_011529216.1:c.317-190_317-189delinsAG XP_011527518.1:n.317-190_317-189delinsAG
XM_011529217.1:c.131-190_131-189delinsAG XP_011527519.1:n.131-190_131-189delinsAG
XM_011529218.1:c.131-190_131-189delinsAG XP_011527520.1:n.131-190_131-189delinsAG
XM_011529214.2:c.788-190_788-189delinsAG XP_011527516.1:n.788-190_788-189delinsAG
XM_017027796.1:c.317-190_317-189delinsAG XP_016883285.1:n.317-190_317-189delinsAG
XR_002958465.1:n.798-190_798-189delinsAG
XR_002958466.1:n.918-190_918-189delinsAG
XR_002958467.1:n.477-190_477-189delinsAG
NM_001042472.3:c.788-190_788-189delinsAG MANE Select NP_001035937.1:n.788-190_788-189delinsAG
NM_015600.5:c.788-190_788-189delinsAG NP_056415.1:n.788-190_788-189delinsAG